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Chondrosarcoma in Metachondromatosis: a Rare Case Report

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Chondrosarcoma in Metachondromatosis: a Rare Case Report CASE REPORT Chondrosarcoma in Metachondromatosis: A Rare Case Report Khodamorad Jamshidi, Tina Shooshtarizadeh, and Mehrdad Bahrabadi Bone and Joint Reconstruction Research Center, Shafa Orthopedic Hospital, Iran University of Medical Sciences, Tehran, Iran Received: 23 Aug. 2016; Accepted: 08 Mar. 2017 Abstract- Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene. It is distinct from other cartilaginous tumors such as multiple osteochondromas and hereditary multiple exostosis by the distribution and orientation of lesions, and pattern of inheritance. In Metachondromatosis osteochondromas typically occur in hands, feet, femur, and tibia while enchondromas commonly affect the pelvic bones and femurs. Both tumors are generally reported to regress in adulthood. To the best of our knowledge only one case of Chondrosarcoma has been reported, and our case is the second reported case of Chondrosarcoma in metachondromatosis. © 2017 Tehran University of Medical Sciences. All rights reserved. Acta Med Iran 2017;55(12):793-799. Keywords: Metachondromatosis; Enchondromas; Osteochondromas Introduction Soft tissue calcifications in periarticular areas are often present (10) and appear similar to those observed Metachondromatosis, (MC), is a rare genetic disease in Trevor’s disease, which is also known as dysplasia characterized by the formation of enchondromas and epiphysealis hemimelica. The periarticular calcifications osteochondromas. There have been approximately 50 are due to peripheral enchondral ossification within cases reported in the literature since the first reported exophytic enchondromas (3). case in 1971 (2). It is distinct from hereditary multiple The enchondromas in MC in contrast of those of exostosis (HME), as the orientation of lesions in multiple enchondromas, most often affect the iliac crests metachondromatosis is towards rather than away from and the metaphyses of long bones with the similar the epiphysis, and exostosis is commonly seen in the radiographic picture. These enchondromas may appear hands and feet (4). Loss of function of the protein as metaphyseal enchondromas, have a flowery tyrosine phosphatase non-receptor type 11 (PTPN11) appearance around joints (8,9,11), or be similar to lytic tumor suppressor gene has been reported as a cause of metastatic bone lesions (7,8). this disease (5). Metachondromatosis is inherited as an The natural history of metachondromatosis is autosomal dominant disease with incomplete penetrance reported as one of spontaneous regression during (5) and is different from other enchondromatosis, such childhood (10), although some lesions may remain into as Ollier’s disease and Maffucci syndrome, which are adulthood. Like other enchondromatoses and multiple sporadic in nature (5,6). exostosis, new lesions do not appear after skeletal The metachondromatosis consists of multiple maturity (6). This condition is different from other exostosis which is true osteochondromas with enchondromatoses due to its lack of potential for cartilaginous caps and characteristically points toward malignant transformation; however, there is a case the adjacent joint rather than away from it. This report regarding a grade 2 Chondrosarcoma arising in an exostosis, which often involve the bones of the hands Enchondroma in a patient with metachondromatosis (3). and feet, do not produce shortening or growth There are some reported complications of disturbance of the affected bone (7) however, case metachondromatosis which are attributable to pressure reports have documented deformities in the distal part of effect of osteochondromas, or enchondromas. These tibia and fingers (8,9) and tibia (8). include common peroneal nerve palsy secondary to Corresponding Author: M. Bahrabadi Bone and Joint Reconstruction Research Center, Shafa Orthopedic Hospital, Iran University of Medical Sciences, Tehran, Iran Tel: +98 +98 21 33542022, Fax: +98 21 33542020 , E-mail address: [email protected] Chondrosarcoma in metachondromatosis compression by exostosis near the fibular head, resulting long before he was visited by us. Our patient did not in numbness and footdrop (8) with later recovery after report any family member as having excision of the exostosis, avascular necrosis of the metachondromatosis, enchondromas, or femoral head in patients with lesions around the femoral osteochondromas. neck (12,13) due to the disruption of lateral epiphyseal Physical examination showed a tender mass at the vessels (7), and skin necrosis overlying a large lesion anterolateral aspect of the proximal part of the left tibia. (8). The pathological fracture may also be present in He had also a hard mass on the lateral aspect of his right metachondromatosis (14). The aim of this study was to arm. report on a very rare case of chondrosarcoma which Anteroposterior and lateral plain radiographs of the happened in metachondromatosis, and to the best of our left knee showed a radiolucent lesion in proximal tibial knowledge is the second reported case in the English epiphysis and metaphysis accompanied with a flocculent literature. calcification. Lateral cortex of the tibia was eroded and showed sunburst periosteal reaction at the level of the Case Report metaphysis (Figure 1a and b). All these features were consistent with an aggressive chondroid tumor. There A forty-two-year-old man was admitted to our were multiple enchondromas in metaphysis, and hospital complaining of left leg pain for two years. The diaphysis of left femur, and left tibia (Figure 1c). pain had been worse and was accompanied by a mass Radiographies of his right humerus showed an two months before the admission. Pain and mass were osteochondroma of the shaft of the humerus, and an localized to the upper third of the leg. The pain had been osteochondroma of the right scapula (Figure1d). Other worse at night but was also present during the daytime. exostoses and enchondromas were also present in his The patient report having multiple bony protrusions right hand, and both feet (Figure 1e and f). (exostosis) in his hands and feet since the age of 11, Figure 1. (a) and (b) Lytic lesion of the proximal part of the tibia, and erosion of the lateral cortex, Anteroposterior, and lateral views respectively;(c) Enchondromas in the metaphyses, and shafts of both femurs;(d) Osteochondroma of the shaft of the humerus, and right scapula (arrow), with soft tissue classification in axilla;(e) Exostoses (arrows) and enchondromas of the hands ; (f) Exostosis and enchondromas of both feet 794 Acta Medica Iranica, Vol. 55, No. 12 (2017) Kh. Jamshidi, et al. T1 weighted magnetic resonance imaging revealed a aspect of the proximal tibia. On T1 weighted MRI, the low intense lobulated lesion involving the left proximal lesion was iso signal as compared to muscle (Figure 2a). tibial epiphysis, metaphysis, and upper part of the On T2 weighted MRI images, the tumor had bright diaphysis, with soft tissue component around the lateral signal (Figure 2b). Figure 2. (a) Coronal T1-weighted magnetic resonance imaging of the left tibia shows a lesion involving epiphysis, metaphysis, and upper part of the diaphysis, with soft tissue component. The lesion has iso-intense signal as compared to muscle. (b) Axial T2-weighted magnetic resonance imaging with fat suppression of the left tibia illustrates a high signal intensity lesion in proximal tibia with a soft tissue component A biopsy was planned for this patient and was knee joint line, and was accompanied with a soft tissue performed through an anterolateral incision to the component at its proximal extent (Figure 3a). proximal tibia. Histological examination showed a Histological examination of the resected proximal tibia moderately cellular to hyper cellular cartilaginous showed a cartilaginous neoplasm consistent with an neoplasm with features suggestive of Chondrosarcoma intermediate-grade to high-grade (grade II/III) including cellular atypia (Figure 3). The reported Chondrosarcoma (Figure 3b and c). Surgical margins diagnosis by our hospital’s bone pathologist was were declared as free in the histopathology exam, and Chondrosarcoma grade II/III of the WHO classification. the nearest surgical margins were reported 1.5 Due to the presence of soft tissue component in this centimeters. Follow-up visits were scheduled every three tumor, and considering the histopathology report, we months for the first two years after surgery. In each decided to perform a wide excision. Through an follow-up, we performed a physical examination and anterolateral approach, wide excision of the proximal asked for plain radiographies of the chest, the operated tibia was performed, and MUTARS prosthesis was used leg, and any symptomatic areas of his skeleton. At two for reconstruction of the defect. Gross examination of years after the operation, this patient was alive, and there the specimen showed a nodular, translucent, whitish was no evidence of local recurrence or distant tissue which completely filled intramedullary space of metastases. The last radiography of the left knee was the tibial epiphysis, metaphysis, and proximal diaphysis consistent with a well-fixed prosthesis (Figure 4). down to a distance of about fifteen centimeters from the Acta Medica Iranica, Vol. 55, No. 12 (2017) 795 Chondrosarcoma in metachondromatosis Figure 3. (a) Sagittally bisected resection specimen of the proximal tibia showing a destructive nodular, whitish
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